ClinVar Miner

List of variants in gene combination LOC110806263, TERT reported as uncertain significance for pulmonary fibrosis

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NM_198253.3(TERT):c.159G>C (p.Gln53His) rs1060503006 0.00006
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153 0.00003
NM_198253.3(TERT):c.144C>T (p.Arg48=) rs746281705 0.00002
NM_198253.3(TERT):c.146C>G (p.Ala49Gly) rs1060503013 0.00002
NM_198253.3(TERT):c.146C>T (p.Ala49Val) rs1060503013 0.00001
NM_198253.3(TERT):c.175C>T (p.Pro59Ser) rs1446206464 0.00001
NM_198253.3(TERT):c.188G>A (p.Arg63Gln) rs1336720402 0.00001
NM_198253.3(TERT):c.189G>A (p.Arg63=) rs1554043134 0.00001
NM_198253.3(TERT):c.76A>G (p.Thr26Ala) rs1579599309 0.00001
NC_000005.9:g.(?_1293418)_(1295161_?)dup
NM_198253.3(TERT):c.-57A>G rs878855297
NM_198253.3(TERT):c.-57A>T
NM_198253.3(TERT):c.-57del rs1751310344
NM_198253.3(TERT):c.104G>A (p.Gly35Asp) rs2126692114
NM_198253.3(TERT):c.104G>T (p.Gly35Val)
NM_198253.3(TERT):c.109C>G (p.Arg37Gly) rs2126692072
NM_198253.3(TERT):c.10G>C (p.Ala4Pro) rs1579599369
NM_198253.3(TERT):c.110G>A (p.Arg37Gln) rs1239502548
NM_198253.3(TERT):c.110G>C (p.Arg37Pro)
NM_198253.3(TERT):c.110G>T (p.Arg37Leu)
NM_198253.3(TERT):c.112C>A (p.Leu38Met) rs1004308241
NM_198253.3(TERT):c.115G>T (p.Val39Leu) rs1751294892
NM_198253.3(TERT):c.119A>T (p.Gln40Leu) rs1751294652
NM_198253.3(TERT):c.120G>C (p.Gln40His) rs1751294429
NM_198253.3(TERT):c.121C>T (p.Arg41Cys)
NM_198253.3(TERT):c.124G>A (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.124G>C (p.Gly42Arg) rs1751293669
NM_198253.3(TERT):c.127G>A (p.Asp43Asn) rs1579599236
NM_198253.3(TERT):c.131C>T (p.Pro44Leu) rs2126691833
NM_198253.3(TERT):c.134C>T (p.Ala45Val)
NM_198253.3(TERT):c.136G>A (p.Ala46Thr) rs1579599228
NM_198253.3(TERT):c.136G>T (p.Ala46Ser) rs1579599228
NM_198253.3(TERT):c.142C>T (p.Arg48Cys) rs1554043151
NM_198253.3(TERT):c.143G>A (p.Arg48His) rs1751291943
NM_198253.3(TERT):c.145_146delinsTT (p.Ala49Leu)
NM_198253.3(TERT):c.154G>A (p.Ala52Thr) rs1751290167
NM_198253.3(TERT):c.155C>T (p.Ala52Val) rs1751289980
NM_198253.3(TERT):c.160T>A (p.Cys54Ser)
NM_198253.3(TERT):c.161G>A (p.Cys54Tyr) rs2126691594
NM_198253.3(TERT):c.16C>G (p.Arg6Gly) rs1751302097
NM_198253.3(TERT):c.172G>C (p.Val58Leu) rs1751288465
NM_198253.3(TERT):c.180G>C (p.Trp60Cys) rs1554043139
NM_198253.3(TERT):c.182A>G (p.Asp61Gly)
NM_198253.3(TERT):c.184G>T (p.Ala62Ser) rs2126691502
NM_198253.3(TERT):c.191C>T (p.Pro64Leu) rs1751286367
NM_198253.3(TERT):c.193C>A (p.Pro65Thr) rs544215765
NM_198253.3(TERT):c.194C>T (p.Pro65Leu) rs1561215067
NM_198253.3(TERT):c.196C>T (p.Pro66Ser) rs2126691433
NM_198253.3(TERT):c.199G>C (p.Ala67Pro) rs2126691405
NM_198253.3(TERT):c.200C>T (p.Ala67Val) rs1554043124
NM_198253.3(TERT):c.202G>A (p.Ala68Thr)
NM_198253.3(TERT):c.202G>T (p.Ala68Ser) rs1038954321
NM_198253.3(TERT):c.203C>T (p.Ala68Val) rs1421869855
NM_198253.3(TERT):c.206C>T (p.Pro69Leu)
NM_198253.3(TERT):c.20G>A (p.Cys7Tyr) rs1751301663
NM_198253.3(TERT):c.214C>T (p.Arg72Cys) rs943289163
NM_198253.3(TERT):c.219+13G>A rs1751282799
NM_198253.3(TERT):c.219+3G>A rs2126691323
NM_198253.3(TERT):c.219+6C>A rs1751283546
NM_198253.3(TERT):c.220-3C>T rs774658501
NM_198253.3(TERT):c.221T>A (p.Val74Glu) rs1751273218
NM_198253.3(TERT):c.227G>C (p.Cys76Ser) rs1192287561
NM_198253.3(TERT):c.229C>G (p.Leu77Val) rs1751271727
NM_198253.3(TERT):c.22C>G (p.Arg8Gly) rs1579599353
NM_198253.3(TERT):c.230T>C (p.Leu77Pro) rs1751271544
NM_198253.3(TERT):c.233A>G (p.Lys78Arg)
NM_198253.3(TERT):c.23G>A (p.Arg8Gln)
NM_198253.3(TERT):c.248G>C (p.Arg83Pro)
NM_198253.3(TERT):c.26C>T (p.Ala9Val)
NM_198253.3(TERT):c.32G>C (p.Arg11Pro)
NM_198253.3(TERT):c.34T>C (p.Ser12Pro)
NM_198253.3(TERT):c.40C>A (p.Leu14Met)
NM_198253.3(TERT):c.47G>A (p.Ser16Asn)
NM_198253.3(TERT):c.49C>T (p.His17Tyr)
NM_198253.3(TERT):c.4C>A (p.Pro2Thr) rs1751303585
NM_198253.3(TERT):c.4C>G (p.Pro2Ala) rs1751303585
NM_198253.3(TERT):c.58G>C (p.Glu20Gln) rs2126692596
NM_198253.3(TERT):c.5C>G (p.Pro2Arg) rs1751303315
NM_198253.3(TERT):c.5C>T (p.Pro2Leu) rs1751303315
NM_198253.3(TERT):c.67C>T (p.Pro23Ser)
NM_198253.3(TERT):c.77C>A (p.Thr26Lys) rs760727529
NM_198253.3(TERT):c.82G>C (p.Val28Leu) rs1060503000
NM_198253.3(TERT):c.83T>G (p.Val28Gly) rs1561215157
NM_198253.3(TERT):c.8G>C (p.Arg3Pro) rs2126693146
NM_198253.3(TERT):c.98C>T (p.Pro33Leu) rs2126692176

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